Dietary practices in isovaleric acidemia: A European survey

A. Pinto, A. Daly, S. Evans, M. F. Almeida, M. Assoun, A. Belanger-Quintana, S. Bernabei, S. Bollhalder, D. Cassiman, H. Champion, H. Chan, J. Dalmau, F. de Boer, C. de Laet, A. de Meyer, A. Desloovere, A. Dianin, M. Dixon, K. Dokoupil, S. DuboisF. Eyskens, A. Faria, I. Fasan, E. Favre, F. Feillet, A. Fekete, G. Gallo, C. Gingell, J. Gribben, K. Kaalund-Hansen, N. Horst, C. Jankowski, R. Janssen-Regelink, I. Jones, C. Jouault, G. E. Kahrs, I. L. Kok, A. Kowalik, C. Laguerre, S. Le Verge, R. Lilje, C. Maddalon, D. Mayr, U. Meyer, A. Micciche, M. Robert, J. C. Rocha, H. Rogozinski, C. Rohde, K. Ross, I. Saruggia, A. Schlune, K. Singleton, E. Sjoqvist, L. H. Stolen, A. Terry, C. Timmer, L. Tomlinson, A. Tooke, K. Vande Kerckhove, E. van Dam, T. van den Hurk, L. van der Ploeg, M. van Driessche, M. van Rijn, A. van Teeffelen-Heithoff, A. van Wegberg, C. Vasconcelos, H. Vestergaard, I. Vitoria, D. Webster, F. J. White, L. White, H. Zweers, A. MacDonald*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Background: In Europe, dietary management of isovaleric acidemia (IVA) may vary widely. There is limited collective information about dietetic management.

Aim: To describe European practice regarding the dietary management of IVA, prior to the availability of the E-IMD IVA guidelines (E-IMD 2014).

Methods: A cross-sectional questionnaire was sent to all European dietitians who were either members of the Society for the Study of Inborn Errors of Metabolism Dietitians Group (SSIEM-DG) or whom had responded to previous questionnaires on dietetic practice (n=53). The questionnaire comprised 27 questions about the dietary management of IVA.

Results: Information on 140 patients with IVA from 39 centres was reported. 133 patients (38 centres) were given a protein restricted diet. Leucine-free amino acid supplements (LFAA) were routinely used to supplement protein intake in 58% of centres. The median total protein intake prescribed achieved the WHO/FAO/UNU [2007] safe levels of protein intake in all age groups. Centres that prescribed LFAA had lower natural protein intakes in most age groups except 1 to 10 y. In contrast, when centres were not using LFAA, the median natural protein intake met WHO/FAO/UNU [2007] safe levels of protein intake in all age groups. Enteral tube feeding was rarely prescribed.

Conclusions: This survey demonstrates wide differences in dietary practice in the management of IVA across European centres. It provides unique dietary data collectively representing European practices in IVA which can be used as a foundation to compare dietary management changes as a consequence of the first E-IMD IVA guidelines availability. (C) 2017 The Authors. Published by Elsevier Inc.

Original languageEnglish
Pages (from-to)16-22
Number of pages7
JournalMolecular Genetics and Metabolism Reports
Publication statusPublished - Sept 2017


  • Isovaleric acidemia
  • Protein restricted diet
  • Leucine
  • Leucine free L-amino acids
  • Natural protein
  • MASS


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